An unusual presentation of late-onset Alexander's disease with slow orthostatic tremor and a novel GFAP variant. Issue 5 (2nd November 2018)

• Record Type: Journal Article
• Authors: Stitt, Derek W.; Gavrilova, Ralitza; Watson, Robert; Hassan, Anhar
• Is Part Of: Neurocase. Volume 24:Issue 5/6(2018)
• Page Start: 266
• Page End: 268
• Publication Date: 2018-11-02
• Subjects: Genetics -- leukodystrophy -- magnetic resonance imaging -- orthostatic tremor -- electrophysiology; Neurology -- Periodicals; Neuropsychology -- Case Report; Mental Disorders -- Case Report; Nervous System Diseases -- Case Report; 616.8
• DOI: 10.1080/13554794.2019.1580749
• Languages: English
• ISSNs: 1355-4794

Abstract

ABSTRACT: Alexander disease (AxD) is a leukodystrophy, described in infantile, juvenile and adult onset forms, due to mutations in the glial fibrillary acid protein (GFAP) gene. Adult-onset AxD (AOAD) has a range of clinical and radiographic phenotypes with the oldest reported onset in the seventh decade.We report a case of AOAD, with onset in the eighth decade, presenting with slow variant orthostatic tremor, which has not been previously described. Genetic analysis revealed a GFAP variant (c.1158C>A) that has not been previously reported. Our case serves to expand the diagnostic spectrum of AOAD both clinically and genetically.